Literature DB >> 3118036

The clinical spectrum of the Fraser syndrome: report of three new cases and review.

J Gattuso1, M A Patton, M Baraitser.   

Abstract

Three new cases of the Fraser syndrome are presented and 68 published cases are reviewed. A quantitative estimate of the frequency of clinical manifestations is given. Craniofacial abnormalities were reported in all patients, cryptophthalmos in 93%, and syndactyly in 54%. Abnormalities of the ears, nose, genitalia, and urinary system were reported in 44%, 37%, 49%, and 37% of cases respectively. This variability should be taken into account when attempting prenatal diagnosis; a combination of ultrasound and fetoscopy should provide the best approach. Of the reported cases 26% were stillborn and 19% died in the first year of life. Renal and pulmonary malformations were associated with early death.

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Year:  1987        PMID: 3118036      PMCID: PMC1050267          DOI: 10.1136/jmg.24.9.549

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  20 in total

1.  [A case of cryptophtalmos on one side with microphthalmia on the other side].

Authors: 
Journal:  Bull Soc Ophtalmol Fr       Date:  1954-10

2.  [A case of cryptophthalmia].

Authors:  P STEIDL
Journal:  Union Med Can       Date:  1962-02

3.  Cryptophthalmia.

Authors:  S ZINN
Journal:  Am J Ophthalmol       Date:  1955-08       Impact factor: 5.258

4.  [A case of crytophthalmos-syndactylia syndrome].

Authors:  R Walbaum; G Delahousse; J Decocq; A Verbert; G Crepin
Journal:  J Genet Hum       Date:  1976-11

5.  Cryptophthalmos, dyscephaly, syndactyly and renal aplasia. Report of a case.

Authors:  L Varnek
Journal:  Acta Ophthalmol (Copenh)       Date:  1978-04

6.  Cryptophthalmos: surgical treatment of the congenital symblepharon variant.

Authors:  D J Brazier; S J Hardman-Lea; J R Collin
Journal:  Br J Ophthalmol       Date:  1986-05       Impact factor: 4.638

7.  Fraser syndrome presenting as bilateral renal agenesis in three sibs.

Authors:  J Burn; R P Marwood
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

8.  Microphthalmia--prenatal ultrasonic diagnosis: a case report.

Authors:  E Feldman; E Shalev; E Weiner; H Cohen; H Zuckerman
Journal:  Prenat Diagn       Date:  1985 May-Jun       Impact factor: 3.050

9.  Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.

Authors:  I W Lurie; E D Cherstvoy
Journal:  Clin Genet       Date:  1984-06       Impact factor: 4.438

10.  Cryptophthalmos syndrome with bilateral renal agenesis.

Authors:  F Codère; S Brownstein; M F Chen
Journal:  Am J Ophthalmol       Date:  1981-06       Impact factor: 5.258

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  15 in total

1.  Cryptophthalmos.

Authors:  S Kanhere; V Phadke; A Mathew; S F Irani
Journal:  Indian J Pediatr       Date:  1999 Sep-Oct       Impact factor: 1.967

2.  Vaginal atresia in a case of fraser syndrome.

Authors:  Setu Rathod; Bandita Dash; P C Mahapatra; Ajit Kumar Nayak
Journal:  J Obstet Gynaecol India       Date:  2013-03-26

3.  Popliteal pterygium syndrome.

Authors:  U G Froster-Iskenius
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

Review 4.  Fraser-cryptophthalmos syndrome.

Authors:  M Kabra; S Gulati; M Ghosh; P S Menon
Journal:  Indian J Pediatr       Date:  2000-10       Impact factor: 1.967

5.  Case report: hypodontia and short roots in a child with Fraser syndrome.

Authors:  E J Keene; P F Day
Journal:  Eur Arch Paediatr Dent       Date:  2011-08

Review 6.  Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

Authors:  H Konrad; J C Merriam; I S Jones
Journal:  Trans Am Ophthalmol Soc       Date:  1995

7.  Fraser Syndrome - a Case Report and Review of Literature.

Authors:  Adrian Dumitru; Mariana Costache; Anca Mihaela Lazaroiu; George Simion; Diana Secara; Monica Cirstoiu; Alina Emanoil; Tiberiu Augustin Georgescu; Maria Sajin
Journal:  Maedica (Bucur)       Date:  2016-03

Review 8.  Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors:  A M Slavotinek; C J Tifft
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

9.  Fraser-cryptophthalmos syndrome with colonic atresia.

Authors:  Manish Narang; Manish Kumar; Dheeraj Shah
Journal:  Indian J Pediatr       Date:  2008-02       Impact factor: 1.967

10.  Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.

Authors:  Elizabeth A Hines; Jamie M Verheyden; Amber J Lashua; Sarah C Larson; Kelsey Branchfield; Eric T Domyan; Juan Gao; Julie F Harvey; John C Herriges; Linghan Hu; David J Mcculley; Kurt Throckmorton; Shigetoshi Yokoyama; Akihiro Ikeda; Guoliang Xu; Xin Sun
Journal:  Dev Dyn       Date:  2016-02-24       Impact factor: 3.780

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